{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T06:14:45Z","timestamp":1769321685376,"version":"3.49.0"},"reference-count":233,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,8,29]],"date-time":"2022-08-29T00:00:00Z","timestamp":1661731200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>Adrenal cortex produces glucocorticoids, mineralocorticoids and adrenal androgens which are essential for life, supporting balance, immune response and sexual maturation. Adrenocortical tumors and hyperplasias are a heterogenous group of adrenal disorders and they can be either sporadic or familial. Adrenocortical cancer is a rare and aggressive malignancy, and it is associated with poor prognosis. With the advance of next-generation sequencing technologies and improvement of genomic data analysis over the past decade, various genetic defects, either from germline or somatic origin, have been unraveled, improving diagnosis and treatment of numerous genetic disorders, including adrenocortical diseases. This review gives an overview of disorders associated with the adrenal cortex, the genetic factors of these disorders and their molecular implications.<\/jats:p>","DOI":"10.3389\/fendo.2022.931389","type":"journal-article","created":{"date-parts":[[2022,8,29]],"date-time":"2022-08-29T08:48:03Z","timestamp":1661762883000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":13,"title":["Disorders of the adrenal cortex: Genetic and molecular aspects"],"prefix":"10.3389","volume":"13","author":[{"given":"Georgia","family":"Pitsava","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea G.","family":"Maria","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabio R.","family":"Faucz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,8,29]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2021.111258","article-title":"Adrenal medulla development and medullary-cortical interactions","volume":"528","author":"Bechmann","year":"2021","journal-title":"Mol Cell Endocrinol"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1016\/s0039-6109(05)70412-6","article-title":"Surgical anatomy and embryology of the adrenal glands","volume":"80","author":"Avisse","year":"2000","journal-title":"Surg Clin North Am"},{"key":"B3","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1016\/B978-0-12-416021-7.00007-9","article-title":"Adrenocortical development, maintenance, and disease","volume":"106","author":"Yates","year":"2013","journal-title":"Curr Top Dev Biol"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2020.110998","article-title":"Stem cells, evolutionary aspects and pathology of the adrenal medulla: A new developmental paradigm","volume":"518","author":"Kastriti","year":"2020","journal-title":"Mol Cell Endocrinol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1002\/cphy.c130050","article-title":"Steroidogenesis-adrenal cell signal transduction","volume":"4","author":"Gallo-Payet","year":"2014","journal-title":"Compr Physiol"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2016.09.003","article-title":"Regulation of zonation and homeostasis in the adrenal cortex","volume":"441","author":"Pignatti","year":"2017","journal-title":"Mol Cell Endocrinol"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1002\/cphy.c130042","article-title":"Pathophysiology, diagnosis, and treatment of mineralocorticoid disorders","volume":"4","author":"Magill","year":"2014","journal-title":"Compr Physiol"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-2010","article-title":"Adrenocortical zonation in humans under normal and pathological conditions","volume":"95","author":"Nishimoto","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-021-00491-4","article-title":"Adrenal cortex renewal in health and disease","volume":"17","author":"Lyraki","year":"2021","journal-title":"Nat Rev Endocrinol"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu203","article-title":"Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations","volume":"23","author":"Guerreiro","year":"2014","journal-title":"Hum Mol Genet"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.3390\/v6010106","article-title":"Historical perspective, development and applications of next-generation sequencing in plant virology","volume":"6","author":"Barba","year":"2014","journal-title":"Viruses"},{"key":"B12","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.preteyeres.2016.06.001","article-title":"Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research","volume":"55","author":"Chaitankar","year":"2016","journal-title":"Prog Retin Eye Res"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2021.111456","article-title":"Genotype-specific cortisol production associated with cushing's syndrome adenoma with PRKACA mutations","volume":"538","author":"Baba","year":"2021","journal-title":"Mol Cell Endocrinol"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1093\/ajh\/hpz172","article-title":"Mosaicism for KCNJ5 causing early-onset primary aldosteronism due to bilateral adrenocortical hyperplasia","volume":"33","author":"Maria","year":"2020","journal-title":"Am J Hypertens"},{"key":"B15","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1210\/edrv-3-3-299","article-title":"The role of lipoproteins in steroidogenesis and cholesterol metabolism in steroidogenic glands","volume":"3","author":"Gwynne","year":"1982","journal-title":"Endocr Rev"},{"key":"B16","doi-asserted-by":"crossref","DOI":"10.1016\/S0021-9258(17)40133-5","article-title":"Receptor-mediated uptake of low density lipoprotein and utilization of its cholesterol for steroid synthesis in cultured mouse adrenal cells","volume":"252","author":"Faust","year":"1977","journal-title":"J Biol Chem"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v16.i47.5916","article-title":"Scavenger receptor BI: A multi-purpose player in cholesterol and steroid metabolism","volume":"16","author":"Hoekstra","year":"2010","journal-title":"World J Gastroenterol"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1152\/ajpendo.90926.2008","article-title":"Acyl-coenzyme a:cholesterol acyltransferases","volume":"297","author":"Chang","year":"2009","journal-title":"Am J Physiol Endocrinol Metab"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1210\/er.2018-00139","article-title":"The expanding spectrum of primary aldosteronism: Implications for diagnosis, pathogenesis, and treatment","volume":"39","author":"Vaidya","year":"2018","journal-title":"Endocr Rev"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.118.033597","article-title":"Primary aldosteronism: Practical approach to diagnosis and management","volume":"138","author":"Byrd","year":"2018","journal-title":"Circulation"},{"key":"B21","doi-asserted-by":"publisher","first-page":"14","DOI":"10.3390\/jcdd6020014","article-title":"An update on the tissue renin angiotensin system and its role in physiology and pathology","volume":"6","author":"Nehme","year":"2019","journal-title":"J Cardiovasc Dev Dis"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1016\/s0303-7207(99)00051-9","article-title":"Adrenal zonation: clues from 11beta-hydroxylase and aldosterone synthase","volume":"151","author":"Rainey","year":"1999","journal-title":"Mol Cell Endocrinol"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1002\/cphy.c140006","article-title":"Adrenal androgens and androgen precursors-definition, synthesis, regulation and physiologic actions","volume":"4","author":"Turcu","year":"2014","journal-title":"Compr Physiol"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1006\/frne.2001.0216","article-title":"DHEA and its transformation into androgens and estrogens in peripheral target tissues: Intracrinology","volume":"22","author":"Labrie","year":"2001","journal-title":"Front Neuroendocrinol"},{"key":"B25","doi-asserted-by":"publisher","first-page":"775","DOI":"10.1210\/endrev\/bnaa008","article-title":"Adrenal incidentaloma","volume":"41","author":"Sherlock","year":"2020","journal-title":"Endocr Rev"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018-01865","article-title":"Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An endocrine society clinical practice guideline","volume":"103","author":"Speiser","year":"2018","journal-title":"J Clin Endocrinol Metab"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1909786","article-title":"Congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"383","author":"Merke","year":"2020","journal-title":"N Engl J Med"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra021561","article-title":"Congenital adrenal hyperplasia","volume":"349","author":"Speiser","year":"2003","journal-title":"N Engl J Med"},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.82.2.521","article-title":"Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man","volume":"82","author":"Carroll","year":"1985","journal-title":"Proc Natl Acad Sci U.S.A."},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.12.4436","article-title":"Characterization of frequent deletions causing steroid 21-hydroxylase deficiency","volume":"85","author":"White","year":"1988","journal-title":"Proc Natl Acad Sci U.S.A."},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-0319","article-title":"Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"96","author":"Finkielstain","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"B32","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-2631","article-title":"Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An endocrine society clinical practice guideline","volume":"95","author":"Speiser","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"B33","doi-asserted-by":"publisher","DOI":"10.1210\/edrv.21.3.0398","article-title":"Congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"21","author":"White","year":"2000","journal-title":"Endocr Rev"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-11-0019","article-title":"Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: Findings in 145 unrelated families","volume":"164","author":"Nandagopal","year":"2011","journal-title":"Eur J Endocrinol"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-2836","article-title":"Metabolic and reproductive features before and during puberty in daughters of women with polycystic ovary syndrome","volume":"94","author":"Sir-Petermann","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"B36","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1582","article-title":"Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members","volume":"94","author":"Bidet","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"B37","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1007\/s12020-015-0656-0","article-title":"Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Clinical presentation, diagnosis, treatment, and outcome","volume":"50","author":"Falhammar","year":"2015","journal-title":"Endocrine"},{"key":"B38","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.51.31","article-title":"The prevalence, molecular analysis and HLA typing of late-onset 21-hydroxylase deficiency in turkish woman with hirsutism and polycystic ovary","author":"Yarman","year":"2004","journal-title":"Endocr J"},{"key":"B39","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.50.815","article-title":"The prevalence of late onset congenital adrenal hyperplasia in hirsute women from central anatolia","volume":"50","author":"Kamel","year":"2003","journal-title":"Endocr J"},{"key":"B40","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.k07-053","article-title":"The prevalence of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in greek women with hirsutism and polycystic ovary syndrome","volume":"55","author":"Trakakis","year":"2008","journal-title":"Endocr J"},{"key":"B41","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/cen.13245","article-title":"PCOS remains a diagnosis of exclusion: A concise review of key endocrinopathies to exclude","volume":"86","author":"Kyritsi","year":"2017","journal-title":"Clin Endocrinol"},{"key":"B42","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1055\/s-2003-43307","article-title":"21-hydroxylase-deficient nonclassic adrenal hyperplasia: The great pretender","volume":"21","author":"Moran","year":"2003","journal-title":"Semin Reprod Med"},{"key":"B43","doi-asserted-by":"publisher","DOI":"10.1210\/edrv-15-4-421","article-title":"Disorders of steroid 11 beta-hydroxylase isozymes","volume":"15","author":"White","year":"1994","journal-title":"Endocr Rev"},{"key":"B44","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2016.02.002","article-title":"Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic","volume":"165","author":"Auchus","year":"2017","journal-title":"J Steroid Biochem Mol Biol"},{"key":"B45","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5459","article-title":"Cloning, expression, and physical mapping of the 3beta-hydroxysteroid dehydrogenase gene cluster (HSD3BP1-HSD3BP5) in human","volume":"61","author":"McBride","year":"1999","journal-title":"Genomics"},{"key":"B46","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2021.770782","article-title":"Disorders of sex development of adrenal origin","volume":"12","author":"Finkielstain","year":"2021","journal-title":"Front Endocrinol (Lausanne)"},{"key":"B47","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.jsbmb.2016.03.009","article-title":"Disorders in the initial steps of steroid hormone synthesis","volume":"165","author":"Miller","year":"2017","journal-title":"J Steroid Biochem Mol Biol"},{"key":"B48","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.jsbmb.2015.05.013","article-title":"The next 150 years of congenital adrenal hyperplasia","volume":"153","author":"Turcu","year":"2015","journal-title":"J Steroid Biochem Mol Biol"},{"key":"B49","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcp065470","article-title":"Clinical practice. The incidentally discovered adrenal mass","volume":"356","author":"Young","year":"2007","journal-title":"N Engl J Med"},{"key":"B50","doi-asserted-by":"publisher","first-page":"G1","DOI":"10.1530\/EJE-16-0467","article-title":"Management of adrenal incidentalomas: European society of endocrinology clinical practice guideline in collaboration with the european network for the study of adrenal tumors","volume":"175","author":"Fassnacht","year":"2016","journal-title":"Eur J Endocrinol"},{"key":"B51","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1097\/00001622-200201000-00011","article-title":"Adrenal incidentalomas","volume":"14","author":"Bertherat","year":"2002","journal-title":"Curr Opin Oncol"},{"key":"B52","doi-asserted-by":"publisher","DOI":"10.1210\/er.2002-0031","article-title":"The clinically inapparent adrenal mass: Update in diagnosis and management","volume":"25","author":"Mansmann","year":"2004","journal-title":"Endocr Rev"},{"key":"B53","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-11-0272","article-title":"The european registry on cushing's syndrome: 2-year experience. Baseline demographic and clinical characteristics","volume":"165","author":"Valassi","year":"2011","journal-title":"Eur J Endocrinol"},{"key":"B54","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2011.04124.x","article-title":"Mortality and morbidity in cushing's syndrome in new zealand","volume":"75","author":"Bolland","year":"2011","journal-title":"Clin Endocrinol (Oxf)"},{"key":"B55","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1159\/000314297","article-title":"Epidemiology of cushing's syndrome","author":"Steffensen","year":"2010","journal-title":"Neuroendocrinology"},{"key":"B56","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.1.7093","article-title":"Incidence and late prognosis of cushing's syndrome: A population-based study","volume":"86","author":"Lindholm","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"B57","doi-asserted-by":"publisher","DOI":"10.1002\/dmrr.2262","article-title":"Do patients with type 2 diabetes mellitus have an increased prevalence of cushing's syndrome","volume":"28","author":"Krarup","year":"2012","journal-title":"Diabetes Metab Res Rev"},{"key":"B58","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-1323","article-title":"Screening of cushing's syndrome in outpatients with type 2 diabetes: Results of a prospective multicentric study in italy","volume":"97","author":"Terzolo","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"B59","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-147-8-200710160-00006","article-title":"Subclinical hypercortisolism among outpatients referred for osteoporosis","volume":"147","author":"Chiodini","year":"2007","journal-title":"Ann Intern Med"},{"key":"B60","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.51","article-title":"Pros and cons of screening for occult cushing syndrome","volume":"7","author":"Tabarin","year":"2011","journal-title":"Nat Rev Endocrinol"},{"key":"B61","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030871","article-title":"Diagnosis and complications of cushing's syndrome: A consensus statement","volume":"88","author":"Arnaldi","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"B62","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2734","article-title":"Treatment of adrenocorticotropin-dependent cushing's syndrome: A consensus statement","volume":"93","author":"Biller","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"B63","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(06)68699-6","article-title":"Cushing's syndrome","volume":"367","author":"Newell-Price","year":"2006","journal-title":"Lancet"},{"key":"B64","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2016.24","article-title":"A genetic and molecular update on adrenocortical causes of cushing syndrome","volume":"12","author":"Lodish","year":"2016","journal-title":"Nat Rev Endocrinol"},{"key":"B65","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2008.10.011","article-title":"ACTH-independent macronodular adrenal hyperplasia","volume":"23","author":"Lacroix","year":"2009","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"B66","doi-asserted-by":"publisher","DOI":"10.1159\/000134829","article-title":"Cushing syndrome caused by adrenocortical tumors and hyperplasias (corticotropin- independent cushing syndrome)","volume":"13","author":"Stratakis","year":"2008","journal-title":"Endocr Dev"},{"key":"B67","doi-asserted-by":"publisher","DOI":"10.1210\/en.2004-0900","article-title":"Minireview: PRKAR1A: normal and abnormal functions","volume":"145","author":"Bossis","year":"2004","journal-title":"Endocrinology"},{"key":"B68","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1016\/j.mce.2011.10.006","article-title":"The cAMP pathway and the control of adrenocortical development and growth","volume":"351","author":"de Joussineau","year":"2012","journal-title":"Mol Cell Endocrinol"},{"key":"B69","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1215245","article-title":"Intraadrenal corticotropin in bilateral macronodular adrenal hyperplasia","volume":"369","author":"Louiset","year":"2013","journal-title":"N Engl J Med"},{"key":"B70","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199911183412104","article-title":"Leuprolide acetate therapy in luteinizing hormone\u2013dependent cushing's syndrome","volume":"341","author":"Lacroix","year":"1999","journal-title":"N Engl J Med"},{"key":"B71","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199210013271403","article-title":"Food-dependent cushing's syndrome mediated by aberrant adrenal sensitivity to gastric inhibitory polypeptide","volume":"327","author":"Reznik","year":"1992","journal-title":"N Engl J Med"},{"key":"B72","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1530\/eje.1.02324","article-title":"Familial adrenocorticotropin-independent macronodular adrenal hyperplasia with aberrant serotonin and vasopressin adrenal receptors","volume":"156","author":"Vezzosi","year":"2007","journal-title":"Eur J Endocrinol"},{"key":"B73","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-10-0195","article-title":"Aberrant cortisol regulations in bilateral macronodular adrenal hyperplasia: A frequent finding in a prospective study of 32 patients with overt or subclinical cushing's syndrome","volume":"163","author":"Libe","year":"2010","journal-title":"Eur J Endocrinol"},{"key":"B74","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-142","article-title":"ACTH-independent macronodular adrenocortical hyperplasia reveals prevalent aberrant in vivo and in vitro responses to hormonal stimuli and coupling of arginine-vasopressin type 1a receptor to 11beta-hydroxylase","volume":"8","author":"Hofland","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"B75","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2002.tb04339.x","article-title":"Cyclic AMP-dependent signaling aberrations in macronodular adrenal disease","volume":"968","author":"Bourdeau","year":"2002","journal-title":"Ann N Y Acad Sci"},{"key":"B76","doi-asserted-by":"publisher","DOI":"10.1385\/ENDO:19:3:319","article-title":"Inherited adrenocorticotropin-independent macronodular adrenal hyperplasia with abnormal cortisol secretion by vasopressin and catecholamines: detection of the aberrant hormone receptors on adrenal gland","volume":"19","author":"Miyamura","year":"2002","journal-title":"Endocrine"},{"key":"B77","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2005.02387.x","article-title":"Ectopic expression of vasopressin V1b and V2 receptors in the adrenal glands of familial ACTH-independent macronodular adrenal hyperplasia","volume":"63","author":"Lee","year":"2005","journal-title":"Clin Endocrinol (Oxf)"},{"key":"B78","doi-asserted-by":"publisher","DOI":"10.1530\/JOE-14-0568","article-title":"Genetics of primary macronodular adrenal hyperplasia","volume":"224","author":"Fragoso","year":"2015","journal-title":"J Endocrinol"},{"key":"B79","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-0221","article-title":"Whole genome expression profiling of glucose-dependent insulinotropic peptide (GIP)- and adrenocorticotropin-dependent adrenal hyperplasias reveals novel targets for the study of GIP-dependent cushing's syndrome","volume":"91","author":"Lampron","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"B80","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-08-0106","article-title":"Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors","volume":"14","author":"Libe","year":"2008","journal-title":"Clin Cancer Res"},{"key":"B81","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-2275","article-title":"Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): Functional variants may contribute to genetic susceptibility of bilateral adrenal tumors","volume":"97","author":"Vezzosi","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"B82","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2012.04366.x","article-title":"Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours","volume":"77","author":"Rothenbuhler","year":"2012","journal-title":"Clin Endocrinol (Oxf)"},{"key":"B83","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-0516","article-title":"Clinical and genetic heterogeneity, overlap with other tumor syndromes, and atypical glucocorticoid hormone secretion in adrenocorticotropin-independent macronodular adrenal hyperplasia compared with other adrenocortical tumors","volume":"94","author":"Hsiao","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"B84","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021362","article-title":"Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene","volume":"88","author":"Fragoso","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"B85","article-title":"McCune-albright syndrome: Molecular genetics","author":"Lumbroso","year":"2002","journal-title":"J Pediatr Endocrinol Metab"},{"key":"B86","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2003.10.052","article-title":"Constitutive activation of the human ACTH receptor resulting from a synergistic interaction between two naturally occurring missense mutations in the MC2R gene","volume":"213","author":"Swords","year":"2004","journal-title":"Mol Cell Endocrinol"},{"key":"B87","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-11-0679","article-title":"Adrenal involvement in MEN1. analysis of 715 cases from the groupe d'etude des tumeurs endocrines database","volume":"166","author":"Gatta-Cherifi","year":"2012","journal-title":"Eur J Endocrinol"},{"key":"B88","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-2377","article-title":"Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: A clinical and molecular genetic investigation","volume":"90","author":"Matyakhina","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"B89","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2012.07.139","article-title":"Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer","volume":"189","author":"Shuch","year":"2013","journal-title":"J Urol"},{"key":"B90","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-4280","article-title":"Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: A clinical and genetic investigation","volume":"99","author":"Faucz","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"B91","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-4204","article-title":"ARMC5 mutations in a large cohort of primary macronodular adrenal hyperplasia: Clinical and functional consequences","volume":"100","author":"Espiard","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"key":"B92","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms13834","article-title":"Armc5 deletion causes developmental defects and compromises t-cell immune responses","volume":"8","author":"Hu","year":"2017","journal-title":"Nat Commun"},{"key":"B93","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1016\/j.mce.2017.06.027","article-title":"The role of ARMC5 in human cell cultures from nodules of primary macronodular adrenocortical hyperplasia (PMAH)","volume":"460","author":"Cavalcante","year":"2018","journal-title":"Mol Cell Endocrinol"},{"key":"B94","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1304603","article-title":"ARMC5 mutations in macronodular adrenal hyperplasia with cushing's syndrome","volume":"369","author":"Assie","year":"2013","journal-title":"N Engl J Med"},{"key":"B95","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx235","article-title":"Age-dependent effects of Armc5 haploinsufficiency on adrenocortical function","volume":"26","author":"Berthon","year":"2017","journal-title":"Hum Mol Genet"},{"key":"B96","doi-asserted-by":"publisher","DOI":"10.4158\/EP15756.OR","article-title":"Germline deletion of Armc5 in familial primary macronodular adrenal hyperplasia","volume":"21","author":"Suzuki","year":"2015","journal-title":"Endocr Pract"},{"key":"B97","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1530\/EJE-15-0642","article-title":"ARMC5 mutations in a large french-canadian family with cortisol-secreting beta-adrenergic\/vasopressin responsive bilateral macronodular adrenal hyperplasia","volume":"174","author":"Bourdeau","year":"2016","journal-title":"Eur J Endocrinol"},{"key":"B98","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-4167","article-title":"Primary aldosteronism and ARMC5 variants","volume":"100","author":"Zilbermint","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"key":"B99","doi-asserted-by":"publisher","DOI":"10.1126\/science.1249480","article-title":"Activating hotspot L205R mutation in PRKACA and adrenal cushing's syndrome","volume":"344","author":"Cao","year":"2014","journal-title":"Science"},{"key":"B100","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-013-9642-y","article-title":"Whole exome sequencing identifies mutation of EDNRA involved in ACTH-independent macronodular adrenal hyperplasia","volume":"12","author":"Zhu","year":"2013","journal-title":"Fam Cancer"},{"key":"B101","doi-asserted-by":"publisher","DOI":"10.1007\/s12022-022-09710-8","article-title":"Overview of the 2022 WHO classification of adrenal cortical tumors","volume":"33","author":"Mete","year":"2022","journal-title":"Endocr Pathol"},{"key":"B102","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-00956-3","article-title":"Predicting the risk of cardiac myxoma in carney complex","volume":"23","author":"Pitsava","year":"2021","journal-title":"Genet Med"},{"key":"B103","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-15-0209","article-title":"Arney complex: An update","volume":"173","author":"Correa","year":"2015","journal-title":"Eur J Endocrinol"},{"key":"B104","doi-asserted-by":"publisher","DOI":"10.2741\/stratakis","article-title":"Genetics of carney complex and related familial lentiginoses, and other multiple tumor syndromes","volume":"5","author":"Stratakis","year":"2000","journal-title":"Front Biosci"},{"key":"B105","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-2333","article-title":"Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): Phenotype analysis in 353 patients and 80 different genotypes","volume":"94","author":"Bertherat","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"B106","doi-asserted-by":"publisher","DOI":"10.1007\/s11102-006-0266-1","article-title":"PRKAR1A mutations in primary pigmented nodular adrenocortical disease","volume":"9","author":"Cazabat","year":"2006","journal-title":"Pituitary"},{"key":"B107","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1038\/79238","article-title":"Mutations of the gene encoding the protein kinase a type i-alpha regulatory subunit in patients with the carney complex","volume":"26","author":"Kirschner","year":"2000","journal-title":"Nat Genet"},{"key":"B108","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2010.10.006","article-title":"Carney complex and other conditions associated with micronodular adrenal hyperplasias","volume":"24","author":"Almeida","year":"2010","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"B109","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg160","article-title":"Protein kinase-a activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1\/2","volume":"12","author":"Robinson-White","year":"2003","journal-title":"Hum Mol Genet"},{"key":"B110","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3159","article-title":"Deletions of the PRKAR1A locus at 17q24.2-q24.3 in carney complex: Genotype-phenotype correlations and implications for genetic testing","volume":"99","author":"Salpea","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"B111","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-07-1155","article-title":"Large deletions of the PRKAR1A gene in carney complex","volume":"14","author":"Horvath","year":"2008","journal-title":"Clin Cancer Res"},{"key":"B112","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20688","article-title":"In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay","volume":"29","author":"Greene","year":"2008","journal-title":"Hum Mutat"},{"key":"B113","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1172\/JCI118467","article-title":"Carney complex, a familial multiple neoplasia and lentiginosis syndrome. analysis of 11 kindreds and linkage to the short arm of chromosome 2","volume":"97","author":"Stratakis","year":"1996","journal-title":"J Clin Invest"},{"key":"B114","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.4.268","article-title":"Chromosome 2 (2p16) abnormalities in carney complex tumours","volume":"40","author":"Matyakhina","year":"2003","journal-title":"J Med Genet"},{"key":"B115","doi-asserted-by":"publisher","DOI":"10.1016\/j.lpm.2018.07.005","article-title":"Genetics of micronodular adrenal hyperplasia and carney complex","volume":"47","author":"Tirosh","year":"2018","journal-title":"Presse Med"},{"key":"B116","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1309730","article-title":"PRKACB and carney complex","volume":"370","author":"Forlino","year":"2014","journal-title":"N Engl J Med"},{"key":"B117","doi-asserted-by":"publisher","first-page":"794","DOI":"10.1038\/ng1809","article-title":"A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia","volume":"38","author":"Horvath","year":"2006","journal-title":"Nat Genet"},{"key":"B118","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1704","article-title":"Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype","volume":"96","author":"Libe","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"B119","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc0706182","article-title":"Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia","volume":"358","author":"Horvath","year":"2008","journal-title":"N Engl J Med"},{"key":"B120","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1310359","article-title":"Constitutive activation of PKA catalytic subunit in adrenal cushing's syndrome","volume":"370","author":"Beuschlein","year":"2014","journal-title":"N Engl J Med"},{"key":"B121","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-14-1154","article-title":"Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: Molecular mechanisms and clinical presentations","volume":"172","author":"Lodish","year":"2015","journal-title":"Eur J Endocrinol"},{"key":"B122","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2008.03273.x","article-title":"Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD)","volume":"69","author":"Tadjine","year":"2008","journal-title":"Clin Endocrinol (Oxf)"},{"key":"B123","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-0631","article-title":"Wnt\/beta-catenin and 3',5'-cyclic adenosine 5'-monophosphate\/protein kinase a signaling pathways alterations and somatic beta-catenin gene mutations in the progression of adrenocortical tumors","volume":"93","author":"Gaujoux","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"B124","doi-asserted-by":"publisher","first-page":"M99","DOI":"10.1530\/EJE-15-0353","article-title":"cAMP signaling in cortisol-producing adrenal adenoma","volume":"173","author":"Calebiro","year":"2015","journal-title":"Eur J Endocrinol"},{"key":"B125","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-2152","article-title":"Novel somatic mutations in the catalytic subunit of the protein kinase a as a cause of adrenal cushing's syndrome: A european multicentric study","volume":"99","author":"Di Dalmazi","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"B126","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-1586","article-title":"Genetic landscape of sporadic unilateral adrenocortical adenomas without PRKACA p.Leu206Arg mutation","volume":"101","author":"Ronchi","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"B127","doi-asserted-by":"publisher","DOI":"10.1210\/en.2018-00775","article-title":"Alterations in protein kinase a substrate specificity as a potential cause of cushing syndrome","volume":"160","author":"Bathon","year":"2019","journal-title":"Endocrinology"},{"key":"B128","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.98296","article-title":"Activating PRKACB somatic mutation in cortisol-producing adenomas","volume":"3","author":"Espiard","year":"2018","journal-title":"JCI Insight"},{"key":"B129","doi-asserted-by":"publisher","DOI":"10.1530\/ERC-17-0361","article-title":"Genetics of tumors of the adrenal cortex","volume":"25","author":"Bonnet-Serrano","year":"2018","journal-title":"Endocr Relat Cancer"},{"key":"B130","article-title":"Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase a expression and activity","volume":"63","author":"Bertherat","year":"2003","journal-title":"Cancer Res"},{"key":"B131","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2956","article-title":"Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors","volume":"46","author":"Goh","year":"2014","journal-title":"Nat Genet"},{"key":"B132","doi-asserted-by":"publisher","DOI":"10.1530\/eje.1.02004","article-title":"Molecular genetics of adrenocortical tumours, from familial to sporadic diseases","volume":"153","author":"Libe","year":"2005","journal-title":"Eur J Endocrinol"},{"key":"B133","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.47.461","article-title":"Mutation analysis of gsalpha, adrenocorticotropin receptor and p53 genes in japanese patients with adrenocortical neoplasms: including a case of gsalpha mutation","volume":"47","author":"Kobayashi","year":"2000","journal-title":"Endocr J"},{"key":"B134","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-3000","article-title":"Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations","volume":"97","author":"Almeida","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"B135","doi-asserted-by":"publisher","DOI":"10.5858\/arpa.2014-0156-RS","article-title":"Clinicopathologic correlates of primary aldosteronism","volume":"139","author":"Duan","year":"2015","journal-title":"Arch Pathol Lab Med"},{"key":"B136","doi-asserted-by":"publisher","DOI":"10.3390\/biomedicines9040409","article-title":"Update on genetics of primary aldosteronism","volume":"9","author":"Itcho","year":"2021","journal-title":"Biomedicines"},{"key":"B137","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.02775.x","article-title":"Primary aldosteronism: renaissance of a syndrome","volume":"66","author":"Young","year":"2007","journal-title":"Clin Endocrinol (Oxf)"},{"key":"B138","doi-asserted-by":"publisher","first-page":"10","DOI":"10.7326\/M20-0065","article-title":"The unrecognized prevalence of primary aldosteronism: A cross-sectional study","volume":"173","author":"Brown","year":"2020","journal-title":"Ann Intern Med"},{"key":"B139","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1295438","article-title":"Prevalence of primary aldosteronism in patient's cohorts and in population-based studies\u2013a review of the current literature","volume":"44","author":"Hannemann","year":"2012","journal-title":"Horm Metab Res"},{"key":"B140","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-4061","article-title":"The management of primary aldosteronism: Case detection, diagnosis, and treatment: An endocrine society clinical practice guideline","volume":"101","author":"Funder","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"B141","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1161\/HYPERTENSIONAHA.111.175083","article-title":"Prevalence and characteristics of familial hyperaldosteronism: The PATOGEN study (Primary aldosteronism in TOrino-GENetic forms)","volume":"58","author":"Mulatero","year":"2011","journal-title":"Hypertension"},{"key":"B142","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.17.8327","article-title":"Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2","volume":"89","author":"Pascoe","year":"1992","journal-title":"Proc Natl Acad Sci U.S.A."},{"key":"B143","doi-asserted-by":"publisher","DOI":"10.1038\/355262a0","article-title":"A chimaeric 11 beta-hydroxylase\/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension","volume":"355","author":"Lifton","year":"1992","journal-title":"Nature"},{"key":"B144","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.85.9.6834","article-title":"Treatment of familial hyperaldosteronism type i: Only partial suppression of adrenocorticotropin required to correct hypertension","volume":"85","author":"Stowasser","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"B145","doi-asserted-by":"publisher","DOI":"10.1111\/joim.12831","article-title":"Diagnosis and treatment of primary aldosteronism: Practical clinical perspectives","volume":"285","author":"Young","year":"2019","journal-title":"J Intern Med"},{"key":"B146","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0048-5","article-title":"CLCN2 chloride channel mutations in familial hyperaldosteronism type II","volume":"50","author":"Scholl","year":"2018","journal-title":"Nat Genet"},{"key":"B147","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0053-8","article-title":"A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism","volume":"50","author":"Fernandes-Rosa","year":"2018","journal-title":"Nat Genet"},{"key":"B148","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1299730","article-title":"The prevalence of familial hyperaldosteronism in apparently sporadic primary aldosteronism in germany: A single center experience","volume":"44","author":"Pallauf","year":"2012","journal-title":"Horm Metab Res"},{"key":"B149","doi-asserted-by":"publisher","DOI":"10.1016\/s0960-0760(01)00097-8","article-title":"Familial hyperaldosteronism","volume":"78","author":"Stowasser","year":"2001","journal-title":"J Steroid Biochem Mol Biol"},{"key":"B150","doi-asserted-by":"publisher","DOI":"10.1161\/HYPERTENSIONAHA.111.183996","article-title":"KCNJ5 mutations in european families with nonglucocorticoid remediable familial hyperaldosteronism","volume":"59","author":"Mulatero","year":"2012","journal-title":"Hypertension"},{"key":"B151","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1121407109","article-title":"Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5","volume":"109","author":"Scholl","year":"2012","journal-title":"Proc Natl Acad Sci U.S.A."},{"key":"B152","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-2428","article-title":"A novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III","volume":"98","author":"Monticone","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"B153","doi-asserted-by":"publisher","DOI":"10.1159\/000358197","article-title":"Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: A patient report and review of the literature","volume":"82","author":"Adachi","year":"2014","journal-title":"Horm Res Paediatr"},{"key":"B154","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1507\/endocrj.ej11-0406","article-title":"Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism","volume":"59","author":"Mussa","year":"2012","journal-title":"Endocr J"},{"key":"B155","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2695","article-title":"Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism","volume":"45","author":"Scholl","year":"2013","journal-title":"Nat Genet"},{"key":"B156","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1530\/ERC-20-0384","article-title":"Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism","volume":"28","author":"Rassi-Cruz","year":"2021","journal-title":"Endocr Relat Cancer"},{"key":"B157","doi-asserted-by":"publisher","DOI":"10.1111\/joim.12452","article-title":"Genetics of adrenocortical tumours","volume":"280","author":"Akerstrom","year":"2016","journal-title":"J Intern Med"},{"key":"B158","doi-asserted-by":"publisher","DOI":"10.1159\/000360870","article-title":"Genetics of primary aldosteronism","volume":"43","author":"Funder","year":"2014","journal-title":"Front Horm Res"},{"key":"B159","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2716","article-title":"Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension","volume":"45","author":"Azizan","year":"2013","journal-title":"Nat Genet"},{"key":"B160","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1038\/ng.2550","article-title":"Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension","volume":"45","author":"Beuschlein","year":"2013","journal-title":"Nat Genet"},{"key":"B161","doi-asserted-by":"publisher","DOI":"10.1126\/science.1198785","article-title":"K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension","volume":"331","author":"Choi","year":"2011","journal-title":"Science"},{"key":"B162","doi-asserted-by":"publisher","DOI":"10.1161\/HYPERTENSIONAHA.114.03419","article-title":"Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma","volume":"64","author":"Fernandes-Rosa","year":"2014","journal-title":"Hypertension"},{"key":"B163","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0041926","article-title":"Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter","volume":"7","author":"Akerstrom","year":"2012","journal-title":"PloS One"},{"key":"B164","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-2149","article-title":"A meta-analysis of somatic KCNJ5 k(+) channel mutations in 1636 patients with an aldosterone-producing adenoma","volume":"100","author":"Lenzini","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"key":"B165","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0147590","article-title":"Genetics of aldosterone-producing adenoma in korean patients","volume":"11","author":"Hong","year":"2016","journal-title":"PloS One"},{"key":"B166","doi-asserted-by":"publisher","DOI":"10.1038\/srep11396","article-title":"Prevalence and clinical correlates of somatic mutation in aldosterone producing adenoma-taiwanese population","volume":"5","author":"Wu","year":"2015","journal-title":"Sci Rep"},{"key":"B167","doi-asserted-by":"publisher","DOI":"10.1210\/er.2017-00189","article-title":"Genetic causes of functional adrenocortical adenomas","volume":"38","author":"Zennaro","year":"2017","journal-title":"Endocr Rev"},{"key":"B168","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2010.11.014","article-title":"The wnt\/beta-catenin pathway in adrenocortical development and cancer","volume":"332","author":"El Wakil","year":"2011","journal-title":"Mol Cell Endocrinol"},{"key":"B169","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1093\/hmg\/ddt484","article-title":"WNT\/beta-catenin signalling is activated in aldosterone-producing adenomas and controls aldosterone production","volume":"23","author":"Berthon","year":"2014","journal-title":"Hum Mol Genet"},{"key":"B170","doi-asserted-by":"publisher","DOI":"10.1038\/srep19546","article-title":"Activating mutations in CTNNB1 in aldosterone producing adenomas","volume":"6","author":"Akerstrom","year":"2016","journal-title":"Sci Rep"},{"key":"B171","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12873","article-title":"Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype","volume":"83","author":"Scholl","year":"2015","journal-title":"Clin Endocrinol (Oxf)"},{"key":"B172","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1504869","article-title":"Pregnancy, primary aldosteronism, and adrenal CTNNB1 mutations","volume":"373","author":"Teo","year":"2015","journal-title":"N Engl J Med"},{"key":"B173","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-1700","article-title":"PRKACA somatic mutations are rare findings in aldosterone-producing adenomas","volume":"101","author":"Rhayem","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"B174","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1507\/endocrj.EJ15-0642","article-title":"GNAS mutations in adrenal aldosterone-producing adenomas","volume":"63","author":"Nakajima","year":"2016","journal-title":"Endocr J"},{"key":"B175","doi-asserted-by":"publisher","DOI":"10.1126\/science.1252328","article-title":"Recurrent somatic mutations underlie corticotropin-independent cushing's syndrome","volume":"344","author":"Sato","year":"2014","journal-title":"Science"},{"key":"B176","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.03033.x","article-title":"Frequent mutations of beta-catenin gene in sporadic secreting adrenocortical adenomas","volume":"68","author":"Tadjine","year":"2008","journal-title":"Clin Endocrinol (Oxf)"},{"key":"B177","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-05-0593","article-title":"Mutations of beta-catenin in adrenocortical tumors: Activation of the wnt signaling pathway is a frequent event in both benign and malignant adrenocortical tumors","volume":"65","author":"Tissier","year":"2005","journal-title":"Cancer Res"},{"key":"B178","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3020","article-title":"Update in adrenocortical carcinoma","volume":"98","author":"Fassnacht","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"B179","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-13-0142","article-title":"Surgery for adrenocortical carcinoma in the netherlands: Analysis of the national cancer registry data","volume":"169","author":"Kerkhofs","year":"2013","journal-title":"Eur J Endocrinol"},{"key":"B180","doi-asserted-by":"publisher","DOI":"10.1007\/s00268-005-0329-x","article-title":"Extent of disease at presentation and outcome for adrenocortical carcinoma: Have we made progress","volume":"30","author":"Kebebew","year":"2006","journal-title":"World J Surg"},{"key":"B181","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2013.02.034","article-title":"Adrenocortical carcinoma: A population-based study on incidence and survival in the netherlands since 1993","volume":"49","author":"Kerkhofs","year":"2013","journal-title":"Eur J Cancer"},{"key":"B182","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.24030","article-title":"Limited prognostic value of the 2004 international union against cancer staging classification for adrenocortical carcinoma: Proposal for a revised TNM classification","volume":"115","author":"Fassnacht","year":"2009","journal-title":"Cancer"},{"key":"B183","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2639","article-title":"Clinical review: Adrenocortical carcinoma: clinical update","volume":"91","author":"Allolio","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"B184","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199004263221705","article-title":"Clinical features of adrenocortical carcinoma, prognostic factors, and the effect of mitotane therapy","volume":"322","author":"Luton","year":"1990","journal-title":"N Engl J Med"},{"key":"B185","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2008.10.008","article-title":"Clinical management of adrenocortical carcinoma","volume":"23","author":"Fassnacht","year":"2009","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"B186","doi-asserted-by":"publisher","first-page":"G1","DOI":"10.1530\/EJE-18-0608","article-title":"European society of endocrinology clinical practice guidelines on the management of adrenocortical carcinoma in adults, in collaboration with the european network for the study of adrenal tumors","volume":"179","author":"Fassnacht","year":"2018","journal-title":"Eur J Endocrinol"},{"key":"B187","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1210\/er.2013-1029","article-title":"Adrenocortical carcinoma","volume":"35","author":"Else","year":"2014","journal-title":"Endocr Rev"},{"key":"B188","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2004.08.085","article-title":"Clinical and outcome characteristics of children with adrenocortical tumors: A report from the international pediatric adrenocortical tumor registry","volume":"22","author":"Michalkiewicz","year":"2004","journal-title":"J Clin Oncol"},{"key":"B189","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2015.02.004","article-title":"The genetics of adrenocortical tumors","volume":"44","author":"Espiard","year":"2015","journal-title":"Endocrinol Metab Clin North Am"},{"key":"B190","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.30248","article-title":"Risks of first and subsequent cancers among TP53 mutation carriers in the national cancer institute li-fraumeni syndrome cohort","volume":"122","author":"Mai","year":"2016","journal-title":"Cancer"},{"key":"B191","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.057570","article-title":"Molecular basis of the li-fraumeni syndrome: An update from the french LFS families","volume":"45","author":"Bougeard","year":"2008","journal-title":"J Med Genet"},{"key":"B192","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-030-25905-1_9","article-title":"Diseases predisposing to adrenocortical malignancy (Li-fraumeni syndrome, beckwith-wiedemann syndrome, and carney complex)","volume":"111","author":"Jouinot","year":"2019","journal-title":"Exp Suppl"},{"key":"B193","volume-title":"Li-fraumeni syndrome, in GeneReviews\u00ae","author":"Schneider","year":"1993"},{"key":"B194","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2011.09.010","article-title":"Towards an understanding of the role of p53 in adrenocortical carcinogenesis","volume":"351","author":"Wasserman","year":"2012","journal-title":"Mol Cell Endocrinol"},{"key":"B195","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg067","article-title":"Beckwith-wiedemann syndrome demonstrates a role for epigenetic control of normal development","author":"Weksberg","year":"2003","journal-title":"Hum Mol Genet"},{"key":"B196","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.85.5.6589","article-title":"Pediatric adrenocortical tumors: molecular events leading to insulin-like growth factor II gene overexpression","volume":"85","author":"Wilkin","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"B197","volume-title":"Beckwith-wiedemann syndrome, in GeneReviews\u00ae","author":"Shuman","year":"1993"},{"key":"B198","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1016\/s0022-3476(98)70008-3","article-title":"Risk of cancer during the first four years of life in children from the beckwith-wiedemann syndrome registry","volume":"132","author":"DeBaun","year":"1998","journal-title":"J Pediatr"},{"key":"B199","doi-asserted-by":"publisher","DOI":"10.1186\/1868-7083-6-11","article-title":"Methylation analysis and diagnostics of beckwith-wiedemann syndrome in 1,000 subjects","volume":"6","author":"Ibrahim","year":"2014","journal-title":"Clin Epigenet"},{"key":"B200","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1002\/ajmg.c.30064","article-title":"Risk of tumorigenesis in overgrowth syndromes: a comprehensive review","author":"Lapunzina","year":"2005","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"B201","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1097\/MPH.0000000000000408","article-title":"Screening hepatoblastoma in beckwith-wiedemann syndrome: A complex issue","volume":"37","author":"Mussa","year":"2015","journal-title":"J Pediatr Hematol Oncol"},{"key":"B202","doi-asserted-by":"publisher","DOI":"10.1007\/s00423-006-0124-7","article-title":"Adrenal involvement in multiple endocrine neoplasia type 1: Results of 7 years prospective screening","volume":"392","author":"Waldmann","year":"2007","journal-title":"Langenbecks Arch Surg"},{"key":"B203","doi-asserted-by":"publisher","DOI":"10.1016\/s0039-6060(05)80117-5","article-title":"Adrenal lesion in multiple endocrine neoplasia type 1","volume":"118","author":"Skogseid","year":"1995","journal-title":"Surgery"},{"key":"B204","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1097\/01.md.0000112297.72510.32","article-title":"Multiple endocrine neoplasia type 1 and zollinger-ellison syndrome: A prospective study of 107 cases and comparison with 1009 cases from the literature","volume":"83","author":"Gibril","year":"2004","journal-title":"Med (Baltimore)"},{"key":"B205","doi-asserted-by":"publisher","DOI":"10.1186\/1477-7819-9-6","article-title":"Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene","volume":"9","author":"Griniatsos","year":"2011","journal-title":"World J Surg Oncol"},{"key":"B206","doi-asserted-by":"publisher","DOI":"10.1007\/s00268-002-6492-4","article-title":"Adrenal involvement in multiple endocrine neoplasia type 1","volume":"26","author":"Langer","year":"2002","journal-title":"World J Surg"},{"key":"B207","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2953","article-title":"Integrated genomic characterization of adrenocortical carcinoma","volume":"46","author":"Assie","year":"2014","journal-title":"Nat Genet"},{"key":"B208","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccell.2016.04.002","article-title":"Comprehensive pan-genomic characterization of adrenocortical carcinoma","volume":"29","author":"Zheng","year":"2016","journal-title":"Cancer Cell"},{"key":"B209","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2009.07.039","article-title":"Calculation of risk of colorectal and endometrial cancer among patients with lynch syndrome","volume":"137","author":"Stoffel","year":"2009","journal-title":"Gastroenterology"},{"key":"B210","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-010-9416-8","article-title":"Adrenocortical carcinoma, an unusual extracolonic tumor associated with lynch II syndrome","volume":"10","author":"Medina-Arana","year":"2011","journal-title":"Fam Cancer"},{"key":"B211","doi-asserted-by":"publisher","DOI":"10.1053\/hupa.2000.20409","article-title":"Adrenocortical adenocarcinoma in an MSH2 carrier: Coincidence or causal relation","volume":"31","author":"Berends","year":"2000","journal-title":"Hum Pathol"},{"key":"B212","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.3800150","article-title":"Unusual tumors associated with the hereditary nonpolyposis colorectal cancer syndrome","volume":"17","author":"Broaddus","year":"2004","journal-title":"Mod Pathol"},{"key":"B213","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2011.12.012","article-title":"Unusual DNA mismatch repair-deficient tumors in lynch syndrome: A report of new cases and review of the literature","volume":"43","author":"Karamurzin","year":"2012","journal-title":"Hum Pathol"},{"key":"B214","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-011-9465-7","article-title":"Identification of individuals at risk for lynch syndrome using targeted evaluations and genetic testing: National society of genetic counselors and the collaborative group of the americas on inherited colorectal cancer joint practice guideline","volume":"21","author":"Weissman","year":"2012","journal-title":"J Genet Couns"},{"key":"B215","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2012.48.0988","article-title":"Adrenocortical carcinoma is a lynch syndrome-associated cancer","volume":"31","author":"Raymond","year":"2013","journal-title":"J Clin Oncol"},{"key":"B216","doi-asserted-by":"publisher","DOI":"10.1007\/s11060-005-0376-z","article-title":"Pediatric adrenal cortical carcinoma: Brain metastases and relationship to NF-1, case reports and review of the literature","volume":"75","author":"Wagner","year":"2005","journal-title":"J Neurooncol"},{"key":"B217","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.165.6.7484586","article-title":"Adrenal carcinoma in a patient with gardner's syndrome: Imaging findings","volume":"165","author":"Traill","year":"1995","journal-title":"AJR Am J Roentgenol"},{"key":"B218","doi-asserted-by":"publisher","DOI":"10.1111\/imj.1967.16.3.242","article-title":"Gardner's syndrome with adrenal carcinoma","volume":"16","author":"Marshall","year":"1967","journal-title":"Australas Ann Med"},{"key":"B219","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(70)80472-3","article-title":"Neurofibromatosis in childhood","volume":"76","author":"Fienman","year":"1970","journal-title":"J Pediatr"},{"key":"B220","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19850501)55:9<2001::aid-cncr2820550929>3.0.co;2-7","article-title":"Adrenal adenomas and adrenal carcinomas in association with hereditary adenomatosis of the colon and rectum","volume":"55","author":"Painter","year":"1985","journal-title":"Cancer"},{"key":"B221","doi-asserted-by":"publisher","DOI":"10.1016\/s0046-8177(98)90052-1","article-title":"Adrenocortical tumor in a patient with familial adenomatous polyposis: a case associated with a complete inactivating mutation of the APC gene and unusual histological features","volume":"29","author":"Wakatsuki","year":"1998","journal-title":"Hum Pathol"},{"key":"B222","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1007\/BF00220544","article-title":"Loss of normal allele of the APC gene in an adrenocortical carcinoma from a patient with familial adenomatous polyposis","volume":"89","author":"Seki","year":"1992","journal-title":"Hum Genet"},{"key":"B223","doi-asserted-by":"publisher","DOI":"10.1159\/000075974","article-title":"Unusual double primary neoplasia: adrenocortical and ureteral carcinomas in werner syndrome","volume":"72","author":"Takazawa","year":"2004","journal-title":"Urol Int"},{"key":"B224","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-2244","article-title":"A large family with carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer","volume":"97","author":"Anselmo","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"B225","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-2321","article-title":"Carney complex with adrenal cortical carcinoma","volume":"97","author":"Morin","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"B226","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.8774","article-title":"The challenge of developmental therapeutics for adrenocortical carcinoma","volume":"7","author":"Costa","year":"2016","journal-title":"Oncotarget"},{"key":"B227","doi-asserted-by":"publisher","DOI":"10.1177\/20420188211058583","article-title":"Pharmacological management of severe cushing's syndrome: The role of etomidate","volume":"13","author":"Pence","year":"2022","journal-title":"Ther Adv Endocrinol Metab"},{"key":"B228","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgab118","article-title":"Cushing syndrome in a pediatric patient with a KCNJ5 variant and successful treatment with low-dose ketoconazole","volume":"106","author":"Tatsi","year":"2021","journal-title":"J Clin Endocrinol Metab"},{"key":"B229","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.855326","article-title":"Tailored approach in adrenal surgery: Retroperitoneoscopic partial adrenalectomy","volume":"13","author":"Alesina","year":"2022","journal-title":"Front Endocrinol (Lausanne)"},{"key":"B230","doi-asserted-by":"publisher","DOI":"10.1016\/j.annonc.2020.08.2099","article-title":"Adrenocortical carcinomas and malignant phaeochromocytomas: ESMO-EURACAN clinical practice guidelines for diagnosis, treatment and follow-up","volume":"31","author":"Fassnacht","year":"2020","journal-title":"Ann Oncol"},{"key":"B231","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2020.101415","article-title":"New perspectives for mitotane treatment of adrenocortical carcinoma","volume":"34","author":"Puglisi","year":"2020","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"B232","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.24605","article-title":"Phase 2 trial of cixutumumab in children, adolescents, and young adults with refractory solid tumors: A report from the children's oncology group","volume":"61","author":"Weigel","year":"2014","journal-title":"Pediatr Blood Cancer"},{"key":"B233","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2013.46","article-title":"Insulin growth factor receptor (IGF-1R) antibody cixutumumab combined with the mTOR inhibitor temsirolimus in patients with metastatic adrenocortical carcinoma","volume":"108","author":"Naing","year":"2013","journal-title":"Br J Cancer"}],"container-title":["Frontiers in Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2022.931389\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,29]],"date-time":"2022-08-29T08:48:10Z","timestamp":1661762890000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fendo.2022.931389\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,29]]},"references-count":233,"alternative-id":["10.3389\/fendo.2022.931389"],"URL":"https:\/\/doi.org\/10.3389\/fendo.2022.931389","relation":{},"ISSN":["1664-2392"],"issn-type":[{"value":"1664-2392","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,29]]},"article-number":"931389"}}